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https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#1
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29145013/parenting-and-family-adjustment-scales-pafas-validation-of-a-brief-parent-report-measure-for-use-with-families-who-have-a-child-with-a-developmental-disability
#2
Trevor G Mazzucchelli, Julie Hodges, Robert T Kane, Kate Sofronoff, Matthew R Sanders, Stewart Einfeld, Bruce Tonge, Kylie M Gray
BACKGROUND: Children with a developmental disability are three to four times more likely than their typically developing peers of developing significant emotional and behavioural problems. There is strong evidence to suggest that individual biological and psychological factors interact with family functioning to precipitate and perpetuate these problems. AIMS: This study examined the psychometric properties of a brief measure, the Parent and Family Adjustment Scales (PAFAS) for use with parents of children with a developmental disability...
November 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29144422/atypical-processing-of-novel-distracters-in-a-visual-oddball-task-in-autism-spectrum-disorder
#3
Estate M Sokhadze, Eva V Lamina, Emily L Casanova, Desmond P Kelly, Ioan Opris, Irma Khachidze, Manuel F Casanova
Several studies have shown that children with autism spectrum disorder (ASD) show abnormalities in P3b to targets in standard oddball tasks. The present study employed a three-stimulus visual oddball task with novel distracters that analyzed event-related potentials (ERP) to both target and non-target items at frontal and parietal sites. The task tested the hypothesis that children with autism are abnormally orienting attention to distracters probably due to impaired habituation to novelty. We predicted a lower selectivity in early ERPs to target, frequent non-target, and rare distracters...
November 16, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/29143542/structure-longitudinal-invariance-and-stability-of-the-child-behavior-checklist-1%C3%A2-5-s-diagnostic-and-statistical-manual-of-mental-disorders-autism-spectrum-disorder-scale-findings-from-generation-r-rotterdam
#4
Leslie A Rescorla, Akhgar Ghassabian, Masha Y Ivanova, Vincent Wv Jaddoe, Frank C Verhulst, Henning Tiemeier
Although the Child Behavior Checklist 1½-5's 12-item Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale (formerly called Pervasive Developmental Problems scale) has been used in several studies as an autism spectrum disorder screener, the base rate and stability of its items and its measurement model have not been previously studied. We therefore examined the structure, longitudinal invariance, and stability of the Child Behavior Checklist 1½-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale in the diverse Generation R (Rotterdam) sample based on mothers' ratings at 18 months ( n = 4695), 3 years ( n = 4571), and 5 years ( n = 5752)...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29143539/psychiatric-care-of-children-with-autism-spectrum-disorder-what-do-their-siblings-think-about-it-a-qualitative-study
#5
Jordan Sibeoni, Louise Chambon, Noel Pommepuy, Clementine Rappaport, Anne Revah-Levy
The expectations and role of families in the care of children with autism spectrum disorder are increasingly important. Nonetheless, no study has thus far explored the perspectives of siblings about the care received by a brother or sister with this disorder. The objective of this study was to fill this gap in the literature. This multicentre qualitative study took place in France, where we conducted semi-structured interviews with adolescents who were older siblings of children receiving care in a day hospital for an autism spectrum disorder...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29142667/towards-a-further-understanding-of-prenatal-thyroid-theory-of-homosexuality-autoimmune-thyroiditis-polycystic-ovary-syndrome-autism-and-low-birth-weight
#6
https://www.readbyqxmd.com/read/29142569/prevalence-and-predictors-of-non-suicidal-self-injury-among-children-with-autism-spectrum-disorder
#7
Bushra Akram, Mehak Batool, Zeeshan Rafi, Abrar Akram
Objectives: To find the prevalence as well as to identify the predictors as protective and risk factors of Non-Suicidal Self-Injury (NSSI) among children with autism spectrum disorder (ASD). Methods: In this analytical cross sectional survey 83 children with ASD age range from 8 to 18 years were selected through convenient sampling technique from five special schools of Lahore city. The Urdu form of a standardized tool was used to assess NSSI. Results: Statistical analysis indicated overall point prevalence of NSSI was 33%...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142556/occurrence-of-oral-habits-among-preschool-children-with-autism-spectrum-disorder
#8
Fares S Al-Sehaibany
Objective: To determine occurrence of oral habits among Saudi preschool children with autism spectrum disorder (ASD) and compare it with healthy preschool children. Methods: This study was conducted over a 14-months period in Riyadh, Saudi Arabia. The sample consisted of two groups; a study group (SG) of 150 ASD children, and a control group (CG) of age- and gender-matched 150 healthy children. The parents of the children in both the groups were administered a questionnaire that included questions about the children's demographic information and previous or persistent oral habits...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142062/the-serine-protease-inhibitor-neuroserpin-is-required-for-normal-synaptic-plasticity-and-regulates-learning-and-social-behavior
#9
Rebecca Reumann, Ricardo Vierk, Lepu Zhou, Frederice Gries, Vanessa Kraus, Julia Mienert, Eva Romswinkel, Fabio Morellini, Isidre Ferrer, Chiara Nicolini, Margaret Fahnestock, Gabriele Rune, Markus Glatzel, Giovanna Galliciotti
The serine protease inhibitor neuroserpin regulates the activity of tissue-type plasminogen activator (tPA) in the nervous system. Neuroserpin expression is particularly prominent at late stages of neuronal development in most regions of the central nervous system (CNS), whereas it is restricted to regions related to learning and memory in the adult brain. The physiological expression pattern of neuroserpin, its high degree of colocalization with tPA within the CNS, together with its dysregulation in neuropsychiatric disorders, suggest a role in formation and refinement of synapses...
December 2017: Learning & Memory
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#10
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#11
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29141232/foxp1-promotes-embryonic-neural-stem-cell-differentiation-by-repressing-jagged1-expression
#12
Luca Braccioli, Stephin J Vervoort, Youri Adolfs, Cobi J Heijnen, Onur Basak, R Jeroen Pasterkamp, Cora H Nijboer, Paul J Coffer
Mutations in FOXP1 have been linked to neurodevelopmental disorders including intellectual disability and autism; however, the underlying molecular mechanisms remain ill-defined. Here, we demonstrate with RNA and chromatin immunoprecipitation sequencing that FOXP1 directly regulates genes controlling neurogenesis. We show that FOXP1 is expressed in embryonic neural stem cells (NSCs), and modulation of FOXP1 expression affects both neuron and astrocyte differentiation. Using a murine model of cortical development, FOXP1-knockdown in utero was found to reduce NSC differentiation and migration during corticogenesis...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29141188/autistic-traits-modulate-the-activity-of-the-ventromedial-prefrontal-cortex-in-response-to-female-faces
#13
Yui Murakami, Shinya Sakai, Kenta Takeda, Daisuke Sawamura, Kazuki Yoshida, Takamichi Hirose, Chisa Ikeda, Hiroki Mani, Toru Yamamoto, Ayahito Ito
Previous findings have revealed abnormal visual attention or processing of faces among individuals with autism spectrum condition (ASC). However, little attention has been paid to the relationship between autistic traits and neural mechanisms associated with representing facial values. Using fMRI, we investigated the patterns of brain activity in the vmPFC and VS in response to faces of elderly males, elderly females, young males, and young females. During fMRI, subjects with a relatively high autism quotient (high group) and those with a relatively low autism quotient (low group) were presented with a face and asked to rate its pleasantness...
November 12, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29139322/how-pupils-on-the-autism-spectrum-make-sense-of-themselves-in-the-context-of-their-experiences-in-a-mainstream-school-setting-a-qualitative-metasynthesis
#14
Emma I Williams, Kate Gleeson, Bridget E Jones
Evidence that interpersonal interactions and self-appraisal in social context are crucial in developing self-understanding raises concerns about how pupils with autism spectrum disorder make sense of themselves in school settings where many experience social marginalisation. Metasynthesis was used to systematically extract and integrate findings from qualitative studies examining the mainstream school experiences of these students. Synthesised findings identified three, intermeshing, aspects of experience which contribute to many pupils with autism spectrum disorder making sense of themselves as 'different' to typical peers in a negative way: difficulties linked to autism spectrum disorder; interpersonal relationships, particularly with peers; and accessibility of the school environment...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29139304/object-directed-imitation-in-autism-spectrum-disorder-is-differentially-influenced-by-motoric-task-complexity-but-not-social-contextual-cues
#15
Lacey Chetcuti, Kristelle Hudry, Megan Grant, Giacomo Vivanti
We examined the role of social motivation and motor execution factors in object-directed imitation difficulties in autism spectrum disorder. A series of to-be-imitated actions was presented to 35 children with autism spectrum disorder and 20 typically developing children on an Apple(®) iPad(®) by a socially responsive or aloof model, under conditions of low and high motor demand. There were no differences in imitation performance (i.e. the number of actions reproduced within a fixed sequence), for either group, in response to a model who acted socially responsive or aloof...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29139302/autism-spectrum-disorder-and-interoception-abnormalities-in-global-integration
#16
Timothy R Hatfield, Rhonda F Brown, Melita J Giummarra, Bigna Lenggenhager
Research over the past three decades has seen a revived interest in the way the human body-and the way in which it is perceived-interacts with aspects of our experience. Consequently, interoception (i.e. the perception of physiological feedback from the body) has recently been shown to be associated with a wide range of cognitive, emotional, and affective functions, making it broadly relevant to the study of autism spectrum disorder. Although limited qualitative accounts and empirical studies suggest that individuals with autism spectrum disorder encounter abnormalities when perceiving and integrating physiological feedback from their bodies, other studies have suggested that people with/without autism spectrum disorder do not differ in interoceptive ability after accounting for alexithymia...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29139169/sex-differences-in-the-phagocytic-and-migratory-activity-of-microglia-and-their-impairment-by-palmitic-acid
#17
Natalia Yanguas-Casás, Andrea Crespo-Castrillo, Maria L de Ceballos, Julie A Chowen, Iñigo Azcoitia, Maria Angeles Arevalo, Luis M Garcia-Segura
Sex differences in the incidence, clinical manifestation, disease course, and prognosis of neurological diseases, such as autism spectrum disorders or Alzheimer's disease, have been reported. Obesity has been postulated as a risk factor for cognitive decline and Alzheimer's disease and, during pregnancy, increases the risk of autism spectrum disorders in the offspring. Obesity is associated with increased serum and brain levels of free fatty acids, such as palmitic acid, which activate microglial cells triggering a potent inflammatory cascade...
November 15, 2017: Glia
https://www.readbyqxmd.com/read/29138391/maternal-impulse-control-disability-and-developmental-disorder-traits-are-risk-factors-for-child-maltreatment
#18
Yoshiyuki Tachibana, Kenji Takehara, Naoko Kakee, Masashi Mikami, Eisuke Inoue, Rintaro Mori, Erika Ota, Tomoe Koizumi, Makiko Okuyama, Takahiko Kubo
Previous work has suggested that maternal developmental disorder traits related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are significantly associated with child maltreatment. However, there may be other important maternal characteristics that contribute to child maltreatment. We hypothesized that maternal impulse control disability may also affect child maltreatment in addition to maternal developmental disorder traits. We aimed to test this hypothesis via a cohort study performed in Tokyo (n = 1,260)...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138280/foxp1-regulation-of-neonatal-vocalizations-via-cortical-development
#19
Noriyoshi Usui, Daniel J Araujo, Ashwinikumar Kulkarni, Marissa Co, Jacob Ellegood, Matthew Harper, Kazuya Toriumi, Jason P Lerch, Genevieve Konopka
The molecular mechanisms driving brain development at risk in autism spectrum disorders (ASDs) remain mostly unknown. Previous studies have implicated the transcription factor FOXP1 in both brain development and ASD pathophysiology. However, the specific molecular pathways both upstream of and downstream from FOXP1 are not fully understood. To elucidate the contribution of FOXP1-mediated signaling to brain development and, in particular, neocortical development, we generated forebrain-specific Foxp1 conditional knockout mice...
November 14, 2017: Genes & Development
https://www.readbyqxmd.com/read/29138132/the-little-prince-a-glimpse-into-the-world-of-autism
#20
Jean-Francois Lemay, Genevieve Eastabrook, Heather MacKenzie
No abstract text is available yet for this article.
November 14, 2017: Archives of Disease in Childhood
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